ClinVar Miner

Variants in gene TRPV4 with conflicting interpretations

See also:
Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
252 106 0 44 18 1 9 64

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign association
pathogenic 0 6 6 1 1 0
likely pathogenic 6 0 4 0 0 0
uncertain significance 6 4 0 15 9 0
likely benign 1 0 15 0 38 0
benign 1 0 9 38 0 1
association 0 0 0 0 1 0

All variants with conflicting interpretations #

Total variants: 64
Download table as spreadsheet
NM_021625.4(TRPV4):c.1153-10C>T rs149541389
NM_021625.4(TRPV4):c.1278G>A (p.Thr426=) rs139179261
NM_021625.4(TRPV4):c.1284G>A (p.Gly428=) rs150773110
NM_021625.4(TRPV4):c.1308C>T (p.Ile436=) rs141244183
NM_021625.4(TRPV4):c.1337G>T (p.Arg446Leu) rs143502097
NM_021625.4(TRPV4):c.1341C>T (p.His447=) rs57316123
NM_021625.4(TRPV4):c.1398C>T (p.Phe466=) rs146929022
NM_021625.4(TRPV4):c.1412_1414del (p.Phe471del) rs515726154
NM_021625.4(TRPV4):c.1491+10C>T rs201815805
NM_021625.4(TRPV4):c.152C>T (p.Pro51Leu) rs115861965
NM_021625.4(TRPV4):c.1539C>T (p.Gly513=) rs141295418
NM_021625.4(TRPV4):c.1581C>T (p.Thr527=) rs114653066
NM_021625.4(TRPV4):c.1656del (p.Tyr553fs) rs541606391
NM_021625.4(TRPV4):c.1684G>A (p.Val562Ile) rs56177950
NM_021625.4(TRPV4):c.1701C>A (p.Tyr567Ter) rs515726156
NM_021625.4(TRPV4):c.1713C>G (p.Ile571Met) rs185933892
NM_021625.4(TRPV4):c.1744C>T (p.Leu582=) rs35078611
NM_021625.4(TRPV4):c.1824+4C>T rs147259744
NM_021625.4(TRPV4):c.1853T>C (p.Leu618Pro) rs515726163
NM_021625.4(TRPV4):c.1885G>A (p.Ala629Thr) rs200838499
NM_021625.4(TRPV4):c.1913C>T (p.Pro638Leu) rs35058636
NM_021625.4(TRPV4):c.2043C>T (p.Gly681=) rs375633647
NM_021625.4(TRPV4):c.205A>C (p.Met69Leu) rs200199102
NM_021625.4(TRPV4):c.2198G>A (p.Trp733Ter) rs200757159
NM_021625.4(TRPV4):c.2247C>T (p.Pro749=) rs141135321
NM_021625.4(TRPV4):c.2248G>A (p.Val750Ile) rs148171058
NM_021625.4(TRPV4):c.2304G>C (p.Ser768=) rs138986228
NM_021625.4(TRPV4):c.2320C>T (p.Arg774Cys) rs145102919
NM_021625.4(TRPV4):c.2388C>T (p.Asn796=) rs116685089
NM_021625.4(TRPV4):c.2433G>C (p.Ser811=) rs34071623
NM_021625.4(TRPV4):c.2498A>G (p.Asn833Ser) rs116035946
NM_021625.4(TRPV4):c.2518G>A (p.Glu840Lys) rs55728855
NM_021625.4(TRPV4):c.2559C>T (p.Cys853=) rs139580010
NM_021625.4(TRPV4):c.28G>C (p.Ala10Pro) rs376436045
NM_021625.4(TRPV4):c.290C>G (p.Pro97Arg) rs876661124
NM_021625.4(TRPV4):c.33G>T (p.Gly11=) rs56092423
NM_021625.4(TRPV4):c.387-4C>T rs12305439
NM_021625.4(TRPV4):c.396G>A (p.Pro132=) rs114101785
NM_021625.4(TRPV4):c.402C>A (p.Ser134Arg) rs201241092
NM_021625.4(TRPV4):c.426G>A (p.Pro142=) rs145327152
NM_021625.4(TRPV4):c.501C>T (p.Asp167=) rs77680510
NM_021625.4(TRPV4):c.549G>A (p.Glu183=) rs141908793
NM_021625.4(TRPV4):c.549G>C (p.Glu183Asp) rs141908793
NM_021625.4(TRPV4):c.557G>A (p.Arg186Gln) rs397514494
NM_021625.4(TRPV4):c.55C>T (p.Pro19Ser) rs3742030
NM_021625.4(TRPV4):c.57C>T (p.Pro19=) rs112408790
NM_021625.4(TRPV4):c.58G>A (p.Gly20Arg) rs764970185
NM_021625.4(TRPV4):c.649G>T (p.Ala217Ser) rs187864727
NM_021625.4(TRPV4):c.651G>A (p.Ala217=) rs371280831
NM_021625.4(TRPV4):c.652G>A (p.Glu218Lys) rs515726168
NM_021625.4(TRPV4):c.694C>T (p.Arg232Cys) rs387906904
NM_021625.4(TRPV4):c.712+10C>T rs115657305
NM_021625.4(TRPV4):c.769C>G (p.Leu257Val) rs56217500
NM_021625.4(TRPV4):c.805C>T (p.Arg269Cys) rs267607146
NM_021625.4(TRPV4):c.806G>A (p.Arg269His) rs267607144
NM_021625.4(TRPV4):c.810G>A (p.Gly270=) rs147558344
NM_021625.4(TRPV4):c.832G>A (p.Glu278Lys) rs267607148
NM_021625.4(TRPV4):c.854-4G>A rs371733585
NM_021625.4(TRPV4):c.898A>G (p.Ile300Val) rs114612488
NM_021625.4(TRPV4):c.935C>T (p.Ala312Val) rs751139506
NM_021625.4(TRPV4):c.943C>T (p.Arg315Trp) rs267607143
NM_021625.4(TRPV4):c.944G>A (p.Arg315Gln) rs1064795696
NM_021625.4(TRPV4):c.946C>T (p.Arg316Cys) rs267607145
NM_021625.4(TRPV4):c.947G>A (p.Arg316His) rs387906905

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.